Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36)

Cytogenetic and Genome Research

Volumn 125, Issue 3, 2009, Pages 248-252

  Lehnen, H ^a   Maiwald, R ^b   Neyzen, S ^a   Kohlhase, J ^c   Bohm D ^c   Ritterbach, J ^d   Behrend, C ^d   Schwennicke, G ^a  

^a Elisabeth Hospital Rheydt   (Germany)

^b MVZ for Laboratory Medicine Microbiology and Human Genetics   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d Practice for Medical Genetics   (Germany)

Author keywords

CGH array; Chromosome 7; PRKAG2; Tetrasomy; Triplication

Indexed keywords

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HEART MUSCLE CONTRACTILITY; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYPOPLASIA; KARYOTYPE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; TETRASOMY; X CHROMOSOME;

ANEUPLOIDY; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; PHENOTYPE; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; YOUNG ADULT;

EID: 70349147884     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000230009     Document Type: Article

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